Sequence Analyses of the Alpha-B Crystalline (CRYAB) Gene in an Autosomal Dominant Cataract Family (ADC3)

Abstract

Abstract: : Purpose: Autosomal dominant cataracts (ADC) are the most common form of inherited cataracts. Recently, Berry et. al. identified a deletion mutation in exon 3 in the alpha-B crystalline (CRYAB) gene in an ADC family with congenital posterior polar cataracts. To determine if the CRYAB deletion mutation was the cause of posterior polar cataracts in an ADC family of Latin American descent (ADC3), we sequenced the coding region of exon 3 of the CRYAB gene. Methods: PCR primers were designed for exon 3 of the CRYAB gene including the intron/exon borders; we sequenced PCR products using an ABI dye terminator kit and an ABI 373 DNA sequencer (Applied Biosystems, Foster City, CA). Results: The deletion mutation reported by Berry et. al. is not present in our ADC3 family. Conclusion: The deletion mutation reported by Berry et. al. is not present in our ADC3 family. Because of the similar phenotype (posterior polar cataracts) as the ADC family reported by Berry et. al. CRYAB remains a strong candidate disease gene for our ADC3 family. Exons 1 and 2 will be sequenced.

Keywords: 338 cataract • 420 genetics